Associated Papers
[Omodysplasia Type II - first publication of de novo Mutation in FZD2 Gene].
Jurk S et al.
Zeitschrift Fur Geburtshilfe Und Neonatologie, 2025
Craniofacial studies in chicken embryos confirm the pathogenicity of human FZD2 variants associated with Robinow syndrome.
Tophkhane SS et al.
Disease Models & Mechanisms, 2024
FZD2 regulates limb development by mediating β-catenin-dependent and -independent Wnt signaling pathways.
Zhu X et al.
Disease Models & Mechanisms, 2023
Successful therapeutic intervention in new mouse models of frizzled 2-associated congenital malformations.
Liegel RP et al.
Development (cambridge, England), 2023
Dominant omodysplasia-A sporadic case-A new case report and review of the literature.
Arabzadeh A et al.
Clinical Case Reports, 2022
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
Zhang C et al.
Hgg Advances, 2022
Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations.
Warren HE et al.
Clinical Case Reports, 2018
Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes.
Nagasaki K et al.
American Journal of Medical Genetics. Part A, 2018
A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia.
Saal HM et al.
Human Molecular Genetics, 2015
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